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UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
ClinGen Allele Registry
Allele Registry
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Canonical Allele Identifier:
CA943274922
Gene:
Linked Data
dbSNP Id:
rs1949496896
gnomAD v3:
11-126160560-G-GGCAGGGCC
gnomAD v4:
11-126160560-G-GGCAGGGCC
JSON-LD
Genomic Alleles
HGVS
Genome Assembly
NC_000011.10:g.126160565_126160572dup , CM000673.2:g.126160565_126160572dup
GRCh38
NC_000011.9:g.126030460_126030467dup , CM000673.1:g.126030460_126030467dup
GRCh37
NC_000011.8:g.125535670_125535677dup
NCBI36
Search 100 bp 5'
Search 100 bp 3'